(Q67518281)

English

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

scientific article published on 01 June 1992

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scholarly article

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Europe PubMed Central

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14 September 2019

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation (English)

1 reference

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14 September 2019

Ehlers-Danlos syndrome

1 reference

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inferred from title

2

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P. N. Ward

1 reference

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17 September 2022

author name string

A. J. Richards

1

1 reference

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17 September 2022

P. Narcisi

3

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17 September 2022

A. C. Nicholls

4

1 reference

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17 September 2022

J. C. Lloyd

5

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17 September 2022

F. M. Pope

6

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17 September 2022

language of work or name

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17 September 2022

publication date

1 June 1992

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14 September 2019

1 reference

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14 September 2019

89

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14 September 2019

4

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14 September 2019

414-418

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14 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00194313

0 references

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen defects in lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simple non-invasive method to obtain DNA for gene analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of novel genetic markers by mismatch analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The estimation of two collagens from human dermis by interrupted gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine structure of the early hair germ and dermal papilla in the human foetus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

1 reference

https://pubmed.ncbi.nlm.nih.gov/1352273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00194313

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1352273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Dimensions Publication ID

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1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1352273%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

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